A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963764



Internal ID18252318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202831678..202843718hg38UCSC Ensembl
Innerchr2:203696401..203708441hg19UCSC Ensembl
Innerchr2:203404646..203416686hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3812041
hg1912041
hg1812041
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2217373, nssv2217369, nssv2217376, nssv2217378, nssv2217377, nssv2217374, nssv2217372, nssv2217370, nssv2217371, nssv2217375
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesICA1L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963764
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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